Results 41 to 50 of about 57,841 (208)

Phenotypic Expression and Outcomes in Patients with the p.Arg301Gln GLA Variant in Anderson-Fabry Disease. [PDF]

Int J Mol Sci
The p.Arg301Gln variant in the α -galactosidase A gene (GLA) has been poorly described in the literature. The few reports show controversial information, with both classical and nonclassical Anderson–Fabry Disease (AFD) presentation patterns.
Blanco R, Rico-Ramírez Y, Hermida-Ameijeiras Á, Abdullah IMS, Lau K, Alvarez-Rubio J, Fortuny E, Martínez-Monzonís A, Nowak A, Nordbeck P, Veras-Burgos C, Pons-Llinares J, Rossi E, Caimi-Martínez F, Bosch-Rovira T, Alamar-Cervera M, Ruiz-Pizarro V, Torres-Juan L, Heine-Suñer D, Ripoll-Vera T.   +19 more
europepmc   +2 more sources

Expanding the Neurological Phenotype of Anderson-Fabry Disease: Proof of Concept for an Extrapyramidal Neurodegenerative Pattern and Comparison with Monogenic Vascular Parkinsonism. [PDF]

Cells
Anderson–Fabry disease (AFD) is a genetic sphingolipidosis involving virtually the entire body. Among its manifestation, the involvement of the central and peripheral nervous system is frequent.
Zedde M, Romani I, Scaravilli A, Cocozza S, Trojano L, Ragno M, Rifino N, Bersano A, Gerevini S, Pantoni L, Valzania F, Pascarella R.   +11 more
europepmc   +2 more sources

Circulating miR-184 is a potential predictive biomarker of cardiac damage in Anderson-Fabry disease. [PDF]

Cell Death Dis, 2021
Enzyme replacement therapy (ERT) is a mainstay of treatment for Anderson–Fabry disease (AFD), a pathology with negative effects on the heart and kidneys. However, no reliable biomarkers are available to monitor its efficacy.
Salamon I, Biagini E, Kunderfranco P, Kunderfranco P, Roncarati R, Ferracin M, Taglieri N, Nardi E, Laprovitera N, Tomasi L, Santostefano M, Ditaranto R, Vitale G, Cavarretta E, Pisani A, Riccio E, Aiello V, Capelli I, La Manna G, Galiè N, Spinelli L, Condorelli G.   +21 more
europepmc   +2 more sources

Fabry disease presenting as apical left ventricular hypertrophy in a patient carrying the missense mutation R118C

Revista Portuguesa de Cardiologia, 2014
Anderson-Fabry disease is an X-linked lysosomal storage disorder caused by abnormalities of the GLA gene, which encodes the enzyme α-galactosidase A. A deficiency of this enzyme leads to the lysosomal accumulation of glycosphingolipids, which may cause ...
Francisca Caetano, Ana Botelho, Paula Mota, Joana Silva, António Leitão Marques   +4 more
doaj   +1 more source

Ileocecal appendix involvement in fabry disease mimicking an acute abdomen [PDF]

, 2014
Anderson-Fabry disease (AFD) is a rare, X-linked, lysosomal storage disorder due to a deficiency of alphagalactosidase A. The direct consequence is a lipid storage with the accumulation of glycosphingolipids throughout the body.
Cristi E, Feriozzi S, Giannakakis K, Gomes VV, MASSARI, ANNALISA, Ranalli TV   +5 more
core   +1 more source

Histopathological findings in renal biopsies in Anderson–Fabry disease. Case series

Revista Médica del Hospital General de México, 2018
Anderson–Fabry disease is the second most common lysosomal storage disease after Gaucher disease. It is an X-linked lysosomal disorder that causes a deficiency in alpha-galactosidase, leading to the accumulation of globotriaosylceramide (Gb3) in the ...
A.L. Mena Rodríguez, M.V. Soto Abraham, M.Y. Valdespino Vázquez, B. de León Garza   +3 more
doaj   +1 more source

Gastrointestinal Involvement in Anderson-Fabry Disease: A Narrative Review. [PDF]

Int J Environ Res Public Health, 2021
Anderson-Fabry disease (FD) is an X-linked lysosomal storage disorder leading to a wide array of clinical manifestations. Among these, gastrointestinal (GI) symptoms such as abdominal pain, bloating, and diarrhea affect about half of the FD adults and ...
Caputo F, Lungaro L, Galdi A, Zoli E, Giancola F, Caio G, De Giorgio R, Zoli G.   +7 more
europepmc   +2 more sources

Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease. [PDF]

, 2017
BACKGROUND: Anderson-Fabry disease (AFD) is an inborn lysosomal enzymopathy resulting from the deficient or absent activity of the lysosomal exogalactohydrolase, α-galactosidase A.
Colomba P, Corpora F, DAIDONE, Mario, Della Corte V, Di Chiara T, Duro G, Miceli S, Nucera A, Pecoraro R, Pinto A., Scaglione R, Simonetta I, Tuttolomondo A, VOGIATZIS, Danai, Zizzo C   +14 more
core   +1 more source

Cardiac Anderson-Fabry disease: Lessons from a 25-year-follow up

Revista Portuguesa de Cardiologia, 2014
Sarcomeric hypertrophic cardiomyopathy (HCM) is the most common genetic cause of unexplained left ventricular hypertrophy and has no specific treatment. Anderson-Fabry disease (AFD) is rare and usually multisystemic, but occasionally expresses clinically
Dulce Brito, Gabriel Miltenberger–Miltenyi, Oana Moldovan, Carmen Navarro, Hugo Costa Madeira   +4 more
doaj   +1 more source

Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy [PDF]

, 2002
Background-Although studies have suggested that "late-onset" hypertrophic cardiomyopathy (HCM) may be caused by sarcomeric protein gene mutations, the cause of HCM in the majority of patients is unknown.
Elliott, PM, Lee, P, McKenna, WJ, Sachdev, B, Takenaka, T, Tei, C, Teraguchi, H   +6 more
core   +1 more source